|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
variable [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
9
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
10
|
(HPO:0002283)
|
Global brain atrophy |
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
12
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
13
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
14
|
(HPO:0002587)
|
Projectile vomiting |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
17
|
(HPO:0003269)
|
Sudanophilic leukodystrophy |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
19
|
(HPO:0005876)
|
Progressive flexion contractures |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0006918)
|
Diffuse cerebral sclerosis |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
22
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|